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Article

The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers.

European journal of human genetics : EJHG - 1 Mar 2004

Haut Sandrine, de Villemeur Thierry Billette, Brivet Michèle, Guiochon-Mantel Anne, Boutron Audrey, Rustin Pierre, Legrand Alain, Slama Abdelhamid

Abstract excerpt

We report on a patient with severe growth retardation and IgF1 deficiency, in which a mitochondrial abnormality was suspected. An isolated mitochondrial respiratory chain complex III deficiency was found in blood lymphocytes and skin fibroblasts. Sequence analysis of the cytochrome b, which is th...

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Identifiers

PMID: 14735157
DOI: 10.1038/sj.ejhg.5201132

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14735157-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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